Variant report

Variant	esv1385792
Chromosome Location	chr7:6073248-6073923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6073899-6073969	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:6073327-6073506	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:6073831-6073886	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:6073887-6073894	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:6073278-6073307	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6050222..6054296-chr7:6073659..6078644,4	K562	blood:
2	chr7:6072240..6074725-chr7:6144325..6145877,2	K562	blood:
3	chr7:6063761..6069877-chr7:6069933..6073533,9	K562	blood:

Variant related genes	Relation type
EIF2AK1	TF binding region
ENSG00000106346	chromatin interactions
ENSG00000086232	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13230226	chr7:6073248-6073249	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs374957012	chr7:6073278-6073279	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs538565728	chr7:6073280-6073281	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs575883023	chr7:6073289-6073290	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs537307682	chr7:6073302-6073303	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370586229	chr7:6073319-6073320	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571686760	chr7:6073336-6073337	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs573544791	chr7:6073346-6073347	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs200658481	chr7:6073369-6073370	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs559498530	chr7:6073384-6073385	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs559415848	chr7:6073402-6073403	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs577794431	chr7:6073403-6073404	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs6959042	chr7:6073422-6073423	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs563869859	chr7:6073436-6073437	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs187681049	chr7:6073445-6073446	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs530367235	chr7:6073475-6073476	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs6977522	chr7:6073479-6073480	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs151050265	chr7:6073489-6073490	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528811710	chr7:6073499-6073500	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs546574266	chr7:6073526-6073527	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571349333	chr7:6073556-6073557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111944894	chr7:6073620-6073621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs62456200	chr7:6073644-6073645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs569473240	chr7:6073662-6073663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554108370	chr7:6073674-6073675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536869746	chr7:6073722-6073723	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75219248	chr7:6073848-6073849	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555605671	chr7:6073852-6073853	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77322153	chr7:6073858-6073859	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572525611	chr7:6073860-6073861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534949835	chr7:6073863-6073864	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533579721	chr7:6073894-6073895	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577758990	chr7:6073916-6073917	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6049400-6098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6050000-6097800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:6050400-6089400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:6050400-6095400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:6050400-6095600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:6050600-6091000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:6050800-6091000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:6050800-6095200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:6051000-6095200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:6051800-6089600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:6052200-6089400	Strong transcription	Fetal Stomach	stomach
12	chr7:6052600-6094600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:6053000-6095000	Strong transcription	Fetal Intestine Small	intestine
14	chr7:6054200-6076200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:6054400-6095200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:6054600-6090200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:6054800-6075800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:6054800-6089400	Strong transcription	Fetal Intestine Large	intestine
19	chr7:6055800-6081000	Strong transcription	HepG2	liver
20	chr7:6055800-6089000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:6056000-6089600	Strong transcription	Liver	Liver
22	chr7:6056400-6085400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:6056400-6095200	Strong transcription	Dnd41	blood
24	chr7:6056600-6095200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:6056800-6089400	Strong transcription	Osteobl	bone
26	chr7:6056800-6090000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:6056800-6090600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:6056800-6094800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:6060200-6076000	Strong transcription	Gastric	stomach
30	chr7:6063800-6074200	Weak transcription	Small Intestine	intestine
31	chr7:6064000-6087400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:6064200-6078200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:6065400-6075200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:6066400-6078800	Strong transcription	Thymus	Thymus
35	chr7:6066400-6090000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr7:6066600-6077800	Weak transcription	Psoas Muscle	Psoas
37	chr7:6066600-6089200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:6066600-6094600	Strong transcription	Fetal Muscle Leg	muscle
39	chr7:6066800-6089400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:6066800-6091200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:6066800-6094800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:6066800-6095200	Strong transcription	Fetal Thymus	thymus
43	chr7:6067000-6073400	Weak transcription	Pancreas	Pancrea
44	chr7:6067000-6073800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:6067000-6074000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:6067000-6075400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:6067000-6077800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:6067000-6089400	Strong transcription	Adipose Nuclei	Adipose
49	chr7:6067000-6089400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr7:6067000-6089600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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